Description:
ATAXIA-TELANGIECTASIA; AT
ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
ATM |
| Chromosomal Location |
11q22.3 |
| Allelic Variant 1 |
p.Leu312fs; ATAXIA-TELANGIECTASIA |
| Identified Mutation |
c.935_936insAlu (p.Leu312fs) |
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| Gene |
ATM |
| Chromosomal Location |
11q22.3 |
| Allelic Variant 2 |
p.Cys2246_Thr2252delinsHis; ATAXIA-TELANGIECTASIA |
| Identified Mutation |
6736_6755delinsCA (p.Cys2246_Thr2252delinsHis) |
| Remarks |
AT394AIV1; Ataxia at age 1 1/2 years; diagnosed at one year of age; elevated AFP; new NGS data revealed that the donor subject is a compound heterozygote with mutations in the ATM gene (GRCh37, hg 19): the maternal allele of the ATM gene carries a T-to C transition at nucleotide 1229 which converts the val-410 codon to an ala codon [Val410Ala (V410A)], resulting in a missense mutation in exon 11; a second allele carries a 20 bp deletion and a 2 bp insertion at nucleotide 6736 (6736del20 ins2) which results in protein truncation. |
| Dalmasso B, Pastorino L, Nathan V, Shah NN, Palmer JM, Howlie M, Johansson PA, Freedman ND, Carter BD, Beane-Freeman L, Hicks B, Molven A, Helgadottir H, Sankar A, Tsao H, Stratigos AJ, Helsing P, Van Doorn R, Gruis NA, Visser M, Wadt KAW, Mann G, Holland EA, Nagore E, Potrony M, Puig S, Menin C, Peris K, Fargnoli MC, Calista D, Soufir N, Harland M, Bishop T, Kanetsky PA, Elder DE, Andreotti V, Vanni I, Bruno W, Höiom V, Tucker MA, Yang XR, Andresen PA, Adams DJ, Landi MT, Hayward NK, Goldstein AM, Ghiorzo P, GenoMEL P, MelaNostrum consortia P, Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia Genetics in medicine : official journal of the American College of Medical Genetics: 2020 |
| PubMed ID: 34262154 |
| dbSNP |
dbSNP ID: 22821 |
| Gene Cards |
ATM |
| Gene Ontology |
GO:0003677 DNA binding |
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GO:0003700 transcription factor activity |
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GO:0004674 protein serine/threonine kinase activity |
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GO:0005622 intracellular |
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GO:0005634 nucleus |
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GO:0006281 DNA repair |
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GO:0006355 regulation of transcription, DNA-dependent |
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GO:0007131 meiotic recombination |
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GO:0007165 signal transduction |
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GO:0016740 transferase activity |
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GO:0016773 phosphotransferase activity, alcohol group as acceptor |
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GO:0045786 negative regulation of cell cycle |
| NCBI Gene |
Gene ID:472 |
| NCBI GTR |
208900 ATAXIA-TELANGIECTASIA; AT |
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607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM |
| OMIM |
208900 ATAXIA-TELANGIECTASIA; AT |
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607585 ATAXIA-TELANGIECTASIA MUTATED GENE; ATM |
| Omim Description |
AT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED |
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AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED |
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AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED |
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AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED |
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AT1 |
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ATAXIA-TELANGIECTASIA; AT |
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LOUIS-BAR SYNDROMEATAXIA-TELANGIECTASIA MUTATED, INCLUDED; ATM, INCLUDED |
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